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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking EDN3 and Waardenburg syndrome type 4B in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with EDN3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Waardenburg syndrome type 4B  (DOID:0110954)
  • 0 papers in RGD have been used to annotate EDN3
  • Qualifier: susceptibility


    • An association has been curated linking EDN3 and Waardenburg syndrome type 4B in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with EDN3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Waardenburg syndrome type 4B  (DOID:0110954)
  • 0 papers in RGD have been used to annotate EDN3
  • Curation Notes: ClinVar Annotator: match by term: Waardenburg syndrome type 4B
  • Original References(s): PMID:11303518 PMID:19556619 PMID:19764030 PMID:20583152 PMID:24033266 PMID:25741868 PMID:28492532 PMID:8630503 PMID:8696331 PMID:9359047 PMID:9587491


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